A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7818488



Internal ID13829637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125860678..125860679hg38UCSC Ensembl
Innerchr8:125860659..125860698hg38UCSC Ensembl
Outerchr8:125860658..125860699hg38UCSC Ensembl
chr8:126872922..126872923hg19UCSC Ensembl
Innerchr8:126872903..126872942hg19UCSC Ensembl
Outerchr8:126872902..126872943hg19UCSC Ensembl
chr8:126942104..126942105hg18UCSC Ensembl
Innerchr8:126942124..126942085hg18UCSC Ensembl
Outerchr8:126942084..126942125hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303968
Supporting Variants
SamplesNA18507
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7818488
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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